Symptoms

On this page

Newline Maker

What are the signs and symptoms of Alström syndrome?

Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes mellitus, and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals with Alström syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alström syndrome vary greatly in severity, and not all affected individuals have all of the characteristic features of the disorder.[1]

A detailed description of the symptoms associated with Alström syndrome can be found through GeneReviews.

Last updated: 12/8/2010

The Human Phenotype Ontology provides the following list of signs and symptoms for Alström syndrome.
If the information is available, the table below includes how often the symptom is seen in people with this condition.
You can use the MedlinePlus Medical Dictionary to look up
the definitions for these medical terms.

Signs and Symptoms

Approximate number of patients (when available)

Chorioretinal abnormality

90%

Short stature

90%

Truncal obesity

90%

Abnormality of lipid metabolism

50%

Acanthosis nigricans

50%

Asthma

50%

Cataract

50%

Hyperinsulinemia

50%

Hypertrophic cardiomyopathy

50%

Insulin resistance

50%

Nystagmus

50%

Otitis media

50%

Photophobia

50%

Pulmonary hypertension

50%

Recurrent respiratory infections

50%

Respiratory insufficiency

50%

Type II diabetes mellitus

50%

Visual impairment

50%

Abnormality of adipose tissue

7.5%

Abnormality of female external genitalia

7.5%

Abnormality of the renal tubule

7.5%

Abnormality of the testis

7.5%

Abnormality of the urethra

7.5%

Alopecia

7.5%

Aplasia/Hypoplasia of the cerebellum

7.5%

Autism

7.5%

Chronic hepatic failure

7.5%

Cirrhosis

7.5%

Cognitive impairment

7.5%

Congestive heart failure

7.5%

Decreased fertility

7.5%

Deeply set eye

7.5%

Glomerulopathy

7.5%

Hepatic steatosis

7.5%

Hepatomegaly

7.5%

Hypertrichosis

7.5%

Hypothyroidism

7.5%

Nephrocalcinosis

7.5%

Obsessive-compulsive behavior

7.5%

Polycystic ovaries

7.5%

Portal hypertension

7.5%

Precocious puberty

7.5%

Pulmonary fibrosis

7.5%

Renal insufficiency

7.5%

Renovascular hypertension

7.5%

Round face

7.5%

Seizures

7.5%

Splenomegaly

7.5%

Vesicoureteral reflux

7.5%

Abnormality of the hand

-

Abnormality of the teeth

-

Accelerated skeletal maturation

-

Atherosclerosis

-

Autosomal recessive inheritance

-

Blindness

-

Chronic active hepatitis

-

Cone/cone-rod dystrophy

-

Diabetes insipidus

-

Dilated cardiomyopathy

-

Elevated hepatic transaminases

-

Gingivitis

-

Growth hormone deficiency

-

Gynecomastia

-

Hypergonadotropic hypogonadism

-

Hyperostosis frontalis interna

-

Hypertension

-

Hypertriglyceridemia

-

Hyperuricemia

-

Hypoalphalipoproteinemia

-

Insulin-resistant diabetes mellitus

-

Kyphosis

-

Menstrual irregularities

-

Multinodular goiter

-

Nephritis

-

Pes planus

-

Pigmentary retinopathy

-

Progressive sensorineural hearing impairment

-

Recurrent pneumonia

-

Scoliosis

-

Subcapsular cataract

-

Tubulointerstitial nephritis

-

Last updated: 8/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.